Title
A carboxy-terminal truncation of 99 amino acids resulting from a novel mutation (Arg555-->stop) in the CHM gene leads to choroideremia.
Date Issued
01 March 1997
Access level
metadata only access
Resource Type
editorial
Author(s)
Forsythe P.
Maguire A.
FUJITA ALARCON, RICARDO MIGUEL
Moen C.
Swaroop A.
Bennett J.
Start page
487
End page
490
Volume
64
Issue
3
Language
English
OCDE Knowledge area
Oftalmología
DOI
10.1006/exer.1996.0200
Scopus EID
2-s2.0-0031090099
PubMed ID
9196401
Source
Experimental eye research
ISSN of the container
00144835
Sponsor(s)
We thank F. Cremers for providing primers to choroideremia exons 1–15, and J. D. Steinberg and A. J. Brucker for clinical support. This research was supported by grants from NIHRO1EYO7961 (AS) and RO1EY10820–01 (JB) and from The Foundation Fighting Blindness (AS), A Research to Prevent Blindness Career Developmental Award (JB), RP Center grants from The Foundation Fighting Blindness, and supports from the Pennsylvania Lions Sight Conservation and Eye Research Foundation, the P. V. Mackall Foundation Trust and the F. M. Kirby Foundation.
Sources of information: Directorio de Producción Científica Scopus